Common variants in Mendelian kidney disease genes and their association with renal function. (Articolo in rivista)

Type
Label
  • Common variants in Mendelian kidney disease genes and their association with renal function. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1681/ASN.2012100983. (literal)
Alternative label
  • Parsa A1, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen MH, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Döring A, Wichmann HE, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kähönen M, Viikari J, Nikopensius T, Province M, Colhoun H, Doney A, Robino A, Krämer BK, Portas L, Ford I, Buckley BM, Adam M, Thun GA, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, van Duijn CM, Borecki I, Kardia SL, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Bochud M, Heid IM, Siscovick DS, Fox CS, Kao WL, Böger CA. (2013)
    Common variants in Mendelian kidney disease genes and their association with renal function.
    in Journal of the American Society of Nephrology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Parsa A1, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen MH, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Döring A, Wichmann HE, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kähönen M, Viikari J, Nikopensius T, Province M, Colhoun H, Doney A, Robino A, Krämer BK, Portas L, Ford I, Buckley BM, Adam M, Thun GA, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, van Duijn CM, Borecki I, Kardia SL, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Bochud M, Heid IM, Siscovick DS, Fox CS, Kao WL, Böger CA. (literal)
Rivista
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Division of Nephrology, University of Maryland School of Medicine, Baltimore, Maryland; 2Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan; 3Renal Division, Freiburg University Clinic, Freiburg, Germany; 4Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland; 5National Heart, Lung, and Blood Institute's Framingham Heart Study and the Center for Population Studies, Framingham, Massachusetts; 6Division of Nephrology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; 7Centre for Biomedicine, European Academy of Bozen/Bolzano, Bolzano, Italy; 8Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota; 9Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts; 10Harvard Medical School, Boston, Massachusetts; 11Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany; 12Institute of Anatomy and Cell Biology, University of Greifswald, Greifswald, Germany; 13Division of Nephrology, Department of Internal Medicine II, University Hospital Regensburg, Regensburg, Germany; 14Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany; 15Department of Neurology, Boston University School of Medicine, Boston, Massachusetts; 16Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts; 17Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland; 18Genomics Resource Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea; 19Division of Statistical Genomics, Washington University School of Medicine, St. Louis, Missouri; 20Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University Hospital Regensburg, Regensburg, Germany; 21Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts; 22Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands; 23Centre for Medical Systems Biology, Rotterdam, The Netherlands; 24Division of Nephrology, Tufts Evidence Practice Center, Tufts University School of Medicine, Tufts Medical Center, Boston, Massachusetts; 25Research Institute, Icelandic Heart Association, Kopavogur, Iceland; 26University of Iceland, Reykjavik, Iceland; 27Departments of Epidemiology and Biostatistics and Forensic Molecular Biology, Erasmus Medical Center, Rotterdam, The Netherlands; 28Clinical Research Branch, National Institute of Aging, Baltimore Maryland; 29University of Washington, Seattle, Washington; 30Department of Epidemiology and Prevention, Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina; 31Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts; 32Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden; 33Department of Medicine, University of Leipzig, Leipzig, Germany; 34Adiposity Diseases Integrated Research and Treatment Center, University of Leipzig, Leipzig, Germany; 35Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands; 36INSERM UMR744, Institut Pasteur, Lille, France; 37Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle, Australia; 38Centre for Information-Based Medicine, Hunter Medical Research Institute, Newcastle, Australia; 39Adriano-Buzzati Traverso-CNR Institute of Genetics and Biophysics, Naples, Italy; 40Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland; 41Swiss Institute of Bioinformatics, Lausanne, Switzerland; 42Fimlab Laboratories, Department of Clinical Chemistry, School of Medicine, University of Tampere, Tampere, Finland; 43Estonian Genome Center, University of Tartu, Tartu, Estonia; 44Institute of Molecular and Cell Biology, Estonian Biocentre, University of Tartu, Tartu, Estonia; 45Wellcome Trust Centre for Molecular Medicine, Clinical Research Centre, University of Dundee, Ninewells Hospital, Dundee, United Kingdom; 46IRCCS Burlo Garofolo Institute for Maternal and Child Health, University of Trieste, Trieste, Italy; 47CNR Institute of Population Genetics, Sassari, Italy; 48Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands; 49Swiss Tropical and Public Health Institute, Basel, Switzerland; 50University of Basel, Basel, Switzerland; 51Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck, Austria; 52Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy; 53Laboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Bethesda, Maryland; 54Human Genetics Center, University of Texas Health Science Center, Houston, Texas; 55Austrian Stroke Prevention Study, Department of Neurology, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria; 56Austrian Stroke Prevention Study, Clinical Division of Neurogeriatrics, Department of Neurology, University Clinic of Neurology, Medical University of Graz, Graz, Austria; 57Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands; 58Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota; 59Division of Geriatrics, Department of Internal Medicine, Wake Forest School of Medicine, Wake Forest University, Winston-Salem, North Carolina; 60Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest University, Winston-Salem, North Carolina; 61Division of Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Wake Forest University, Winston-Salem, North Carolina; 62Department of Internal Medicine II, Ulm University Clinic, University of Ulm, Ulm, Germany; 63Hanover Unified Biobank, Hanover Medical School, Hanover, Germany; 64Research Unit of Molecular Epidemiology, German Research Center for Environmental Health, Neuherberg, Germany; 65Institute of Epidemiology I and II, German Research Center for Environmental Health, Neuherberg, Germany; 66Institute for Medical Informatics, Biometry, and Epidemiology, Ludwig-Maximilians-University, Munich, Germany; 67Grosshadern Clinic, Neuherberg, Germany; 68Center for Population Health Sciences, University of Edinburgh Medical School, Edinburgh, Scotland, United Kingdom; 69Croatian Centre for Global Health, University of Split Medical School, Split, Croatia; 70Department of Genetics, Stanford University, Stanford, California; 71Department of Medicine, University of Chicago, Chicago, Illinois; 72Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom; 73Institute of Clinical Molecular Biology, Christian-Albrechts University, Kiel, Germany; 74PopGen Biobank, Schleswig-Holstein University Hospital, Kiel, Germany; 75Institute for Epidemiology, University of Kiel, Kiel, Germany; 76Department of Nutrition and Food Sciences, University of Bonn, Bonn, Germany; 77Clinic for Prosthodontic Dentistry, Gerostomatology, and Material Science, University of Greifswald, Greifswald, Germany; 78Institute of Pharmacology, University of Greifswald, Greifswald, Germany; 79Institute of Clinical Chemistry and Laboratory Medicine, University of Greifswald, Greifswald, Germany; 80Clinic for Internal Medicine A, University of Greifswald, Greifswald, Germany; 81Institute for Community Medicine, University of Greifswald, Greifswald, Germany; 82Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; 83Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands; 84INSERM U897, Institute of Public Health, Victor Segalen Bordeaux II University, Bordeaux, France; 85Victor Segalen Bordeaux II University, Bordeaux, France; 86Centre for Vision Research, Westmead Millennium Institute, Westmead Hospital, University of Sydney, Sydney, Australia; 87Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia; 88INSERM UMRS 1018, Villejuif, France; 89UMRS 1018, University of Paris-Sud, Paris, France; 90Department of Clinical Physiology, Tampere University Hospital, School of Medicine, University of Tampere, Tampere, Finland; 91Department of Medicine, Turku University Hospital, University of Turku, Turku, Finland; 92National Health Service Tayside, Wellcome Trust Centre for Molecular Medicine, Clinical Research Centre, Ninewells Hospital, Dundee, United Kingdom; 93Fifth Department of Medicine, Mannheim University Medical Centre, Mannheim, Germany; 94Robertson Centre for Biostatistics, University of Glasgow, Glasgow, United Kingdom; 95Department of Pharmacology and Therapeutics, University College Cork, Cork, Ireland; 96First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria; 97Department of Internal Medicine, Vaudois University Hospital Center, University of Lausanne, Lausanne, Switzerland; 98Research Centre of Applied and Preventive Cardiovascular Medicine, Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland; 99Biomedical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, United Kingdom; 100Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands; 101Einthoven Laboratory for Experimental Vascular Medicine, Leiden, The Netherlands; 102Durrer Center for Cardiogenetic Research, Amsterdam, The Netherlands; 103CNR Institute of Molecular Genetics, Pavia, Italy; 104Geriatric Research and Education Clinical Center, Veterans Affairs Medical Center, Baltimore, Maryland; 105Welch Center for Prevention, Epidemiology, and Clinical Research, Baltimore, Maryland; 106Netherlands Consortium for Healthy Aging, Netherlands Genomics Initiative, Leiden, the Netherlands; 107Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Michigan; 108Channing Laboratory, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; 109Institute of Physiology, University of Greifswald, Karlsburg, Germany; 110Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Oxford, United Kingdom; 111University Institute of Social and Preventive Medicine, Vaudois University Hospital Center, University of Lausanne, Lausanne, Switzerland; 112Institute of Genetic Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany; and 113Division of Endocrinology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts (literal)
Titolo
  • Common variants in Mendelian kidney disease genes and their association with renal function. (literal)
Abstract
  • Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. (literal)
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